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Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020.

J Community Genet

August 2024

Graduate Program in Health Sciences, Universidade do Sul de Santa Catarina, Tubarão, Santa Catarina, Brazil.

Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother's residence health macroregion.

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This study aimed to evaluate the evolution of the completeness and consistency of the gastroschisis registry in the Brazilian Live Birth Information System (SINASC). It is a time-series study on the completeness of the variable "occurrence of congenital anomaly" and the consistency of gastroschisis diagnosis in SINASC, in biennia from 2005 to 2020, for federative units, region, and Brazil. The consistency was estimated by the ratio between deaths from gastroschisis registered in the Brazilian Mortality Information System (SIM) and the total number of cases recorded in SINASC.

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Purpose: Urine sodium (UNa) is a measure of total body sodium in infants with intestinal failure (IF) but can be misleading as it does not reflect volume status. Urine sodium to urine creatinine ratio (UNa:UCr) may offer a more accurate measure, but is not routinely used. This study compares UNa:UCr to UNa as a maker of sodium status in infants with IF.

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Prevalence, management, and outcome of cryptorchidism associated with gastroschisis: A systematic review and meta-analysis.

J Pediatr Surg

July 2022

Pediatric Surgery Unit, Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Azienda Ospedaliero Universitaria Policlinico Umberto I, Viale Regina Elena, 324, Rome 00161, Italy. Electronic address:

Purpose: Cryptorchidism associated with gastroschisis has been poorly investigated. We aimed to assess the prevalence of this association, and to address the management and outcome of cryptorchidism in this context.

Materials And Methods: In this systematic review, we searched electronic databases (PubMed, Web of Science, and Google Scholar), without language restrictions from inception to March 31, 2021, for studies on cryptorchidism and gastroschisis co-occurrence.

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Introduction: Gastroschisis is a congenital malformation characterized by intestinal herniation through an abdominal wall defect. Despite its unknown pathogenesis, known risk factors include maternal smoking, alcohol use, and young maternal age. Previous work has shown that gastroschisis is associated with placental delayed villous maturation, and the goal of this study was to assess for additional associated placental pathologies that may help clarify the pathogenesis of gastroschisis.

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